Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function

@inproceedings{Breitenkamp2014RareMO,
  title={Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function},
  author={Alexandra Frauke Stephanie Breitenkamp and Jan Matthes and Robert D Nass and Judith Sinzig and Gerd Lehmkuhl and Peter N{\"u}rnberg and Stefan Herzig},
  booktitle={PloS one},
  year={2014}
}
Autism Spectrum Disorders (ASD) are complex neurodevelopmental diseases clinically defined by dysfunction of social interaction. Dysregulation of cellular calcium homeostasis might be involved in ASD pathogenesis, and genes coding for the L-type calcium channel subunits CaV1.2 (CACNA1C) and CaVβ2 (CACNB2) were recently identified as risk loci for psychiatric diseases. Here, we present three rare missense mutations of CACNB2 (G167S, S197F, and F240L) found in ASD-affected families, two of them… CONTINUE READING
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